Publications (9)11.09 Total impact
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Article: Is counselling for CCAM that difficult? Learning from parental experience.
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ABSTRACT: Cystic adenomatoid malformations (CCAM) are relatively rare developmental abnormalities of the lung. Despite outcome is usually benign, parents often exhibit high anxiety level. The purpose of the present study was to collect parents'subjective experience of communication of diagnosis when expecting a fetus with CCAM. In the period ranging between 2004 to 2007 all couples referred to our hospital for prenatal suspicion of CCAM, were contacted to participate in the study by means of a questionnaire. Twenty-seven couples returned fully completed questionnaire and form the object of this study. 13/27 couples were recommended pregnancy termination.MAJOR RISKS PRESENTED WERE: fetal distress (27/27), intrauterine death (16/27), death at birth (12/27).THE MOST DISTRESSING MOMENTS WERE: communication of diagnosis and the time lag between communication of diagnosis and consultation with the surgeon. Despite CCAM carries a favourable prognosis, couples often appear to receive incomplete information with risk of fetal distress and demise prevailing over survival rate and long term outcome. To provide the couple with the most accurate information concerning the anomaly and the associated prognosis to make informed decision a referral to a tertiary pediatric surgery unit should be made as soon as possible.Journal of prenatal medicine. 07/2011; 5(3):65-8. -
Article: Cytomegalovirus infection in pregnancy: review of the literature.
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ABSTRACT: The aim of this review is to summarize the principles of cytomegalovirus (CMV) infection in pregnancy.In particular, the aim of this review is to evaluate:Incidence and mother-to-child transmissionThe value of screening of pregnant womenDiagnosis of CMV maternal infectionDiagnosis of fetal infection (evaluate the value of ultrasound examination and amniocentesis and evaluate whether the amniotic viral load of mothers with primary cytomegalovirus infection correlate with fetal or neonatal outcomes)Diagnosis of infection in newbornsTherapy in pregnancy, postnatal therapy and prevention.Journal of prenatal medicine. 01/2011; 5(1):1-8. -
Article: The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.
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ABSTRACT: The aim of the study is to evaluate the role of Denaturing High Performance Liquid Chromatography (DHPLC) in the second level screening of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. A 9-month prospective study, between June 2008 and March 2009 at Artemisia Fetal Medical Centre, included 3829 samples of amniotic fluid collected from women undergoing mid-trimester amniocentesis.The genetic diagnosis of CF was based on research of the main mutations of the CFTR gene on fetal DNA extracted from the amniocytes, (first level screening) using different commercial diagnostic systems. A second level screening using DHPLC, on the amniotic fluid and on a blood sample from the couple, was offered in case of fetuses heterozygous at first level screening. Of 3829 fetuses, 134 were found to be positive, 129 heterozygous and 5 affected. Of the 129 couples, following appropriate genetic counselling, 53 requested a second level screening. Through the use of DHPLC, 44 couples were found to be negative, and in nine couples, nine rare mutations were identified. The first level screening can be useful to evidence up to 75% of the CF mutations. The second level screening can identify a further 10% of mutant alleles. DHPLC was found to be a reliable and specific method for the rapid identification of the rare CFTR mutations which were not revealed in initial first level screening.Journal of prenatal medicine. 01/2010; 4(3):45-8. -
Article: Antibiotic prophylaxis before second-trimester genetic amniocentesis (APGA): a single-centre open randomised controlled trial.
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ABSTRACT: To compare procedure-related pregnancy loss after second-trimester genetic amniocentesis in women given an antibiotic prophylaxis and controls. Prospective, open randomised controlled single-centre study between January 1999 and December 2005 at Artemisia Fetal Maternal Medical Centre. A follow-up within 4 weeks after the procedure was done.Of 36,347 eligible women, 1424 refused to participate and 34,923 were enrolled and randomised with unequal chance of selection, 21,991 were assigned to treatment group and 12,932 were assigned to the control group, and did not receive any placebo. Oral azithromycin, 500 mg per day, was administered 3 days before amniocentesis. The primary endpoint was the procedure-related pregnancy loss. The secondary endpoint was the rate of preterm premature rupture of membranes. The rate of abortion related to the amniocentesis was 7/21 219 women (0.03%, 95% CI 0.009-0.057) in the intervention group, and 36/12 529 (0.28%, 0.28-0.30) in controls (p = 0.0019). The rate of preterm premature rupture of membranes was 14/21 219 (0.06%, 0.031-0.101) in the intervention group, and 140/12 529 (1.12%, 0.94-1.30) in the control group (p = 0.001). Antibiotic prophylaxis before second-trimester amniocentesis reduced the risk of abortion and of rupture of the membranes.Prenatal Diagnosis 03/2009; 29(6):606-12. · 2.11 Impact Factor -
Article: Prenatal diagnosis of esophageal duplication cyst: the value of prenatal MRI.
Prenatal Diagnosis 03/2009; 29(5):531-2. · 2.11 Impact Factor -
Article: Prenatal screening of Cystic Fibrosis: a single centre experience.
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ABSTRACT: The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life. In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles. We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821. We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.Journal of prenatal medicine. 01/2008; 2(1):6-10. -
Article: Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.
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ABSTRACT: Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found.Birth Defects Research Part A Clinical and Molecular Teratology 04/2006; 76(3):210-3. · 2.27 Impact Factor -
Article: Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more?
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ABSTRACT: With the constant advances in technology and expertise of prenatal diagnosis, necessity of early counseling in cases of bilateral obstructive uropathy has become of paramount importance. To better evaluate fetal renal function new biochemical (serum and urine) fetal markers have been introduced in the literature. However, they are only available at select centers and always requiring an invasive approach. Furthermore, paucity of normal controls sometimes makes interpretation of results difficult. Owing to this growing interest towards biochemical evaluation of fetal renal function, assessment of amniotic fluid, which is mostly expression of fetal urination, has progressively fallen into disrepute, and studies comparing the amount of amniotic fluid with renal function are scant. In a 3-year period 28 cases of bilateral obstructive uropathy were seen prenatally at the Artemisia Medical Center. All cases were initially reviewed at 17 to 20 weeks of gestation when a distended fetal bladder with thickened wall and enlarged kidneys were visualized. At the same time ultrasonographic assessment of amniotic fluid was performed by calculating the amniotic fluid index. An amniotic fluid index less than the 25th percentile was considered below average and an index less below the 5th percentile was considered oligohydramnios, whereas an index between 50th and 75th percentiles was considered normal. All cases were subsequently evaluated for renal function up to age 1 year. Impaired renal function was defined as a serum creatinine greater than 1.2 mg/dl before age 1 year. Of the 28 cases 18 had an index of oligohydramnios (group 1) and 10 had a normal index (group 2). No significant variations were observed in amniotic fluid index at repeated consultations throughout pregnancy. Two cases in group 1 and 1 case in group 2 were lost to followup while in the other group 1 cases intrauterine death occurred. Bilateral obstructive uropathy was confirmed in all instances after birth as valves in 18 cases and urethral atresia in 3. Of the 12 surviving group 1 cases there were 3 neonatal deaths from severe lung hypoplasia, and in the remaining 9 cases mean serum creatinine at each evaluation before age 1 year was 1.3 +/- 0.2 mg/dl. All patients in group 2 survived with a mean serum creatinine at each evaluation of 0.6 +/- 0.1 mg/dl (p <0.05). Despite widespread use of prenatal biochemistry, evaluation of amniotic fluid by the amniotic fluid index remains a reproducible and inexpensive method to predict renal function in cases of bilateral obstructive uropathy of any origin. It retains its validity not only in severe, but also in milder reductions. Conversely, intact amniotic fluid mostly invariably predicts normal renal function at long-term evaluation. For a better understanding of the disease such information is to be promptly conveyed to the prospective parents at each prenatal consultation.The Journal of Urology 11/2005; 174(4 Pt 2):1657-60. · 3.75 Impact Factor -
Article: Uterine fibroids and risk for complications following second-trimester amniocentesis.
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ABSTRACT: To compare the abortion rate and preterm premature rupture of membranes (PPROM) after amniocentesis in women who have undergone antibiotic prophylaxis with uterine fibroids and control. Retrospective study using the Antibiotic Prophylaxis before Second-Trimester Genetic Amniocentesis trial database carried out between January 1999 and December 2005 at the Artemisia Fetal-Maternal Medical Center (Rome, Italy). All women underwent antibiotic prophylaxis before amniocentesis. A follow-up within 4 weeks from the procedure was available. A total of 2,497 of 21,219 (11.8%) women with uterine fibroids were identified. The rate of abortion was 2 of 2,497 (0.08%) in women with fibroids and 4 of 18,722 (0.03%) in women without fibroids (p = 0.42). The rate of PPROM was 4 of 2,497 (0.16%) in women with fibroids and 10 of 18,722 (0.05%) in women without fibroids (p = 0.12). The risk for abortion and PPROM does not increase in the presence of uterine fibroids in women who have undergone antibiotic prophylaxis.The Journal of reproductive medicine 56(9-10):393-7. · 0.87 Impact Factor
Top co-authors
Top Journals
Institutions
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2006–2011
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Ospedale Pediatrico Bambino Gesù
- • Dipartimento di Neonatologia Medica e Chirurgica
- • Unità Operativa di Chirurgia Neonatale
Roma, Latium, Italy
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2008–2009
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Artemisia Fetal–Maternal Medical Centre
Roma, Latium, Italy
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